Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome

Ana Santos, Leonor Osorio-Almeida, Paul N. Baird, Jorge M. Silva, Maria G. Boavida, John Kenneth Cowell

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

The WT1 gene was analysed using DNA from a Wilms' tumour derived from a patient with the WAGR syndrome using single strand conformation polymorphism analysis and polymerase chain reaction sequencing. A 14-bp insertion was found in the intron part of the splice donor site of exon 7 and was a tandem duplication of an upstream exon sequence. This mutation would be expected to disrupt the correct processing of the WT1 mRNA and is predicted to result in a non-functional protein. This observation further supports the role of WT1 in Wilms' tumorigenesis in patients with constitutional 11p13 deletions.

Original languageEnglish (US)
Pages (from-to)83-86
Number of pages4
JournalHuman Genetics
Volume92
Issue number1
DOIs
StatePublished - Aug 1 1993
Externally publishedYes

Fingerprint

WAGR Syndrome
Gene Silencing
Exons
RNA Splice Sites
Wilms Tumor
Introns
Neoplasms
Carcinogenesis
Polymerase Chain Reaction
Messenger RNA
Mutation
DNA
Genes
Proteins

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome. / Santos, Ana; Osorio-Almeida, Leonor; Baird, Paul N.; Silva, Jorge M.; Boavida, Maria G.; Cowell, John Kenneth.

In: Human Genetics, Vol. 92, No. 1, 01.08.1993, p. 83-86.

Research output: Contribution to journalArticle

Santos, A, Osorio-Almeida, L, Baird, PN, Silva, JM, Boavida, MG & Cowell, JK 1993, 'Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome', Human Genetics, vol. 92, no. 1, pp. 83-86. https://doi.org/10.1007/BF00216151
Santos, Ana ; Osorio-Almeida, Leonor ; Baird, Paul N. ; Silva, Jorge M. ; Boavida, Maria G. ; Cowell, John Kenneth. / Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome. In: Human Genetics. 1993 ; Vol. 92, No. 1. pp. 83-86.
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